Amyotrophy, Monomelic

Categories: Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Amyotrophy, Monomelic

MalaCards integrated aliases for Amyotrophy, Monomelic:

Name: Amyotrophy, Monomelic 57 73
Benign Focal Amyotrophy 53 54 59
Monomelic Amyotrophy 53 54 59
Hirayama Disease 57 53 59
Juvenile Muscular Atrophy of Distal Upper Extremity 53 59
Juvenile Muscular Atrophy of the Distal Upper Limb 59
Spinal Muscular Atrophy, Juvenile, Nonprogressive 57
Spinal Muscular Atrophy Juvenile Nonprogressive 53
Juvenile Muscular Atrophy of Distal Upper Limb 53
Hirayama Syndrome 54
Jmadue 59


Orphanet epidemiological data:

monomelic amyotrophy
Age of onset: Adolescent,Adult; Age of death: normal life expectancy;


isolated cases

most cases are sporadic
insidious onset
average age at onset 18 years (range 15 to 25 years)
more common in males
generally benign disorder
mode of inheritance is uncertain


amyotrophy, monomelic:
Onset and clinical course insidious onset
Inheritance sporadic


Orphanet: 59  
Rare neurological diseases

External Ids:

OMIM 57 602440
Orphanet 59 ORPHA65684
MESH via Orphanet 45 C538253
UMLS via Orphanet 74 C1865384
ICD10 via Orphanet 34 G12.8
MedGen 42 C1865384
UMLS 73 C1865384

Summaries for Amyotrophy, Monomelic

NINDS : 54 Monomelic amyotrophy (MMA) is characterized by progressive degeneration and loss of motor neurons, the nerve cells in the brain and spinal cord that are responsible for controlling voluntary muscles. It is characterized by weakness and wasting in a single limb, usually an arm and hand rather than a foot and leg. There is no pain associated with MMA. While some physicians contend that mild sensory loss may be associated with this disease, many experts suggest that such symptoms actually indicate a cause other than MMA. MMA occurs in males between the ages of 15 and 25. Onset and progression are slow. MMA is seen most frequently in Asia, particularly in Japan and India; it is much less common in North America. In most cases, the cause is unknown, although there have been a few published reports linking MMA to traumatic or radiation injury. There are also familial forms of MMA. Diagnosis is made by physical exam and medical history. Electromyography (EMG), a special recording technique that detects electrical activity in muscles, shows a loss of the nerve supply, or denervation, in the affected limb; MRI and CT scans may show muscle atrophy. People believed to have MMA should be followed by a neuromuscular disease specialist for a number of months to make certain that no signs of other motor neuron diseases develop.

MalaCards based summary : Amyotrophy, Monomelic, also known as benign focal amyotrophy, is related to o'sullivan-mcleod syndrome and muscular atrophy. An important gene associated with Amyotrophy, Monomelic is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1). The drug Coal tar has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and skeletal muscle, and related phenotypes are muscle weakness and tremor

NIH Rare Diseases : 53 Monomelic amyotrophy (MMA) is a rare disease that causes muscle weakness in the upper extremities. MMA affects the lower motor neurons. Lower motor neurons are cells that help communicate information from the brain to the muscles that are involved in movement (skeletal muscles). Specifically, monomelic amyotrophy causes weakness and loss of muscle mass in the arms and fingers. Symptoms of the disease typically begin between the ages of 14-25 years-old. The disease is most common in Asia, especially in Japan and India. Males are more likely to develop the disease than females. The exact cause of monomelic amyotrophy is unknown. It is possible that the disease is caused by movement of the sac that surrounds the spinal cord due to repeated downward movement (flexion) of the neck. Monomelic amyotrophy can sometimes run in families, but it is not thought to be caused by a specific genetic change. Diagnosis of the disease is based on imaging studies and electromyography (EMG) consistent with the disease. Treatment options may include muscle strengthening exercises and neck bracing.

OMIM : 57 Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005). (602440)

Wikipedia : 76 Monomelic amyotrophy (MMA), is a motor neuron disease first described in 1959 in Japan. Its symptoms... more...

Related Diseases for Amyotrophy, Monomelic

Diseases related to Amyotrophy, Monomelic via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 o'sullivan-mcleod syndrome 11.3
2 muscular atrophy 10.3
3 cervicitis 10.1
4 neuronitis 10.1
5 spinal muscular atrophy 10.0
6 motor neuron disease 10.0
7 juvenile spinal muscular atrophy 10.0
8 amyotrophic lateral sclerosis 1 9.8
9 charge syndrome 9.8
10 epilepsy, idiopathic generalized 10 9.8
11 epilepsy 9.8
12 lateral sclerosis 9.8
13 ulnar neuropathy 9.8
14 neuropathy 9.8
15 distal hereditary motor neuropathies 9.8

Graphical network of the top 20 diseases related to Amyotrophy, Monomelic:

Diseases related to Amyotrophy, Monomelic

Symptoms & Phenotypes for Amyotrophy, Monomelic

Symptoms via clinical synopsis from OMIM:

Muscle Soft Tissue:
muscle weakness restricted to the upper limb
muscle atrophy restricted to the upper limb
interosseus muscles involved
dorsal and flexor muscles of the forearm are involved
amyotrophy affects c5 to t1 myotomes

Clinical features from OMIM:


Human phenotypes related to Amyotrophy, Monomelic:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
3 fasciculations 59 32 occasional (7.5%) Occasional (29-5%) HP:0002380
4 degeneration of anterior horn cells 59 32 frequent (33%) Frequent (79-30%) HP:0002398
5 abnormality of the immune system 59 32 occasional (7.5%) Occasional (29-5%) HP:0002715
6 abnormality of peripheral nerve conduction 59 32 frequent (33%) Frequent (79-30%) HP:0003134
7 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
8 distal upper limb amyotrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007149
9 abnormality of the upper limb 59 Very frequent (99-80%)
10 abnormality of movement 59 Occasional (29-5%)
11 emg 32 HP:0003445
12 upper limb muscle weakness 32 HP:0003484
13 interosseus muscle atrophy 32 HP:0007181

Drugs & Therapeutics for Amyotrophy, Monomelic

Drugs for Amyotrophy, Monomelic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

# Name Status Phase Clinical Trials Cas Number PubChem Id
Coal tar Approved 8007-45-2

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Answer ALS: Individualized Initiative for ALS Discovery Recruiting NCT02574390

Search NIH Clinical Center for Amyotrophy, Monomelic

Genetic Tests for Amyotrophy, Monomelic

Anatomical Context for Amyotrophy, Monomelic

MalaCards organs/tissues related to Amyotrophy, Monomelic:

Spinal Cord, Brain, Skeletal Muscle

Publications for Amyotrophy, Monomelic

Articles related to Amyotrophy, Monomelic:

# Title Authors Year
Benign focal amyotrophy. ( 28449880 )
A clinical study of benign focal amyotrophy. ( 7986389 )
Benign focal amyotrophy: a longitudinal study (13-15 years) in 3 cases. ( 1813976 )
Benign focal amyotrophy: metrizamide CT evidence of cord atrophy. Case report. ( 3587268 )
Benign focal amyotrophy or monomelic amyotrophy. ( 3778256 )
Benign focal amyotrophy. ( 3964106 )
Benign focal amyotrophy. Variant of chronic spinal muscular atrophy. ( 6721743 )
Benign focal amyotrophy. ( 20269885 )

Variations for Amyotrophy, Monomelic

Expression for Amyotrophy, Monomelic

Search GEO for disease gene expression data for Amyotrophy, Monomelic.

Pathways for Amyotrophy, Monomelic

GO Terms for Amyotrophy, Monomelic

Cellular components related to Amyotrophy, Monomelic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.62 CEP126 CPLANE1

Biological processes related to Amyotrophy, Monomelic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 8.96 CEP126 CPLANE1
2 cell projection organization GO:0030030 8.62 CEP126 CPLANE1

Sources for Amyotrophy, Monomelic

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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